Le Merrer M, Ledinot V, Renier D, Marchac D, Briard M L
Clinique et Unité de Recherches de Génétique Médicale, Hôpital des Enfants Malades, Paris.
J Genet Hum. 1988 Aug;36(4):295-306.
Result of a family study based on 584 patients with craniostenosis brings some answers useful for genetic counselling. For 98 patients (15%) a syndrome is associated. Third part of them has Apert syndrome, an other third part has Crouzon syndrome, and for the last third more exceptional acrocephalosyndactyly syndrome (Saethre-Chotzen, Pfeiffer) or others atypical associations, sometimes not yet described, but with an autosomal dominant inheritance. Non syndromic craniostenosis involves differently according to the type of join, but the localization is the same if recurrence will be happen. Coronal craniostenosis seems to be a dominant autosomal character, when scaphocephaly is more often sporadic; for both, an autosomal dominant inheritance is not excluded for some pedigrees. If the recurrence risk exist in some cases, it is generally well accepted by parents on account of the good neurosurgeon prognosis.
一项基于584例颅缝早闭患者的家系研究结果为遗传咨询提供了一些有用的答案。98例患者（15%）伴有综合征。其中三分之一患有Apert综合征，另外三分之一患有Crouzon综合征，最后三分之一患有更罕见的尖头并指综合征（塞特雷-乔岑综合征、 Pfeiffer综合征）或其他非典型关联，有些关联尚未被描述，但具有常染色体显性遗传。非综合征性颅缝早闭根据缝合类型的不同而有所不同，但如果发生复发，其定位是相同的。冠状缝早闭似乎是常染色体显性特征，而舟状头畸形则更常为散发性；对于这两种情况，某些家系不排除常染色体显性遗传。如果某些情况下存在复发风险，由于神经外科预后良好，父母通常也能接受。
